ClinVar Miner

Submissions for variant NM_006303.4(AIMP2):c.105C>A (p.Tyr35Ter)

gnomAD frequency: 0.00001  dbSNP: rs529613640
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000656387 SCV002053931 likely pathogenic Leukodystrophy, hypomyelinating, 17 criteria provided, single submitter research
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000579202 SCV000579314 uncertain significance Neurodevelopmental abnormality no assertion criteria provided research
OMIM RCV000656387 SCV000778393 pathogenic Leukodystrophy, hypomyelinating, 17 2018-06-05 no assertion criteria provided literature only

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